Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, People's Republic of China.
Department of Prenatal Diagnosis Center, Dongguan Maternal & Children Health Hospital, Dongguan, People's Republic of China.
Hemoglobin. 2021 Sep;45(5):341-344. doi: 10.1080/03630269.2022.2036186. Epub 2022 Mar 24.
We here describe a novel hemoglobin (Hb) variant, Hb Liaobu [α107(G14)Val→Leu, : c.322G>C], in a Chinese family. The structurally abnormal α chain variant could not be detected using capillary electrophoresis (CE) and was subsequently characterized by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS), and further confirmed by reversed phase high performance liquid chromatography (HPLC). Sanger sequencing revealed a novel base mutation on the α2-globin gene and RNA analysis by reverse transcription polymerase chain reaction (RT-PCR) showed the presence of an abnormal transcript. The isopropanol stability test indicated the stable state of this structural Hb variant. In conclusion, a new Hb variant, Hb Liaobu, was discovered and characterized. It was proven to be a nonpathogenic variant. Our study resolved the confusion in the clinical diagnosis of individuals with this novel Hb variant in this family.
我们在这里描述了一个新的血红蛋白（Hb）变体，Hb Liaobu [α107(G14)Val→Leu，: c.322G>C]，存在于一个中国家庭中。结构异常的α链变体不能用毛细管电泳（CE）检测到，随后用基质辅助激光解吸电离飞行时间（MALDI-TOF）质谱（MS）进行了特征描述，并通过反相高效液相色谱（HPLC）进一步证实。Sanger 测序显示α2-球蛋白基因上有一个新的碱基突变，逆转录聚合酶链反应（RT-PCR）的 RNA 分析显示存在异常转录本。异丙醇稳定性测试表明该结构 Hb 变体处于稳定状态。总之，发现并鉴定了一种新的 Hb 变体，Hb Liaobu。它被证明是一种非致病性变体。我们的研究解决了该家族中具有这种新型 Hb 变体的个体在临床诊断中的困惑。
